A new mutation in GJC2 associated with subclinical leukodystrophy
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چکیده
منابع مشابه
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
Hypomyelinating leukodystrophy (HLD) is a genetic demyelinating and dismyelinating disease in the oligodendrocyte, the central nervous system (CNS) myelin-forming glia [1]. Pelizaeus-Merzbacher disease is a prototypic HLD and is now called HLD1. HLD1 is caused by mutations of the gene encoding proteolipid protein 1 (PLP1). HLD4 (OMIM No. 612233) is associated with a missense mutation of mitocho...
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! 45 and 47, respectively. His parents were not consanguineous and there is no previous history of similar neurological diseases in the family. Examination of the optic fundi showed no abnormal findings. He had no numbness, paresthesia, muscle weakness, muscle atrophy, abnormal involuntary movements or ataxia. Superficial sensation was normal, but vibratory sense was very slightly impaired in t...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2014
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-014-7429-1